Variant report

Variant	rs12032549
Chromosome Location	chr1:57776927-57776928
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr1:57776686-57777214	HepG2	liver:	n/a	n/a
2	USF2	chr1:57776825-57777007	HepG2	liver:	n/a	n/a
3	HNF4A	chr1:57776728-57776978	HepG2	liver:	n/a	chr1:57776948-57776963 chr1:57776949-57776962 chr1:57776949-57776963 chr1:57776950-57776962 chr1:57776950-57776962 chr1:57776949-57776964
4	CREB1	chr1:57776722-57777114	HepG2	liver:	n/a	n/a
5	CEBPB	chr1:57776772-57777066	HepG2	liver:	n/a	n/a
6	CREB1	chr1:57776633-57777053	HepG2	liver:	n/a	n/a
7	POLR2A	chr1:57776596-57777040	H1-neurons	neurons:	n/a	n/a
8	MAX	chr1:57776765-57777040	HepG2	liver:	n/a	n/a
9	HNF4A	chr1:57776751-57777090	HepG2	liver:	n/a	chr1:57776948-57776963 chr1:57776949-57776962 chr1:57776949-57776963 chr1:57776950-57776962 chr1:57776950-57776962 chr1:57776949-57776964
10	POLR2A	chr1:57776676-57777092	H1-neurons	neurons:	n/a	n/a
11	FOXA2	chr1:57776718-57777039	HepG2	liver:	n/a	n/a
12	HNF4G	chr1:57776754-57777049	HepG2	liver:	n/a	chr1:57776949-57776962 chr1:57776949-57776963 chr1:57776950-57776962 chr1:57776950-57776962 chr1:57776949-57776964
13	ARID3A	chr1:57776755-57777018	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
DAB1	TF binding region

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs11206975	1.00[CEU][hapmap]
rs11206981	1.00[CEU][hapmap]
rs12408256	1.00[CEU][hapmap]
rs12561986	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12562392	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12562394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12562555	0.86[CHB][hapmap];0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs12562609	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12562847	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12562930	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12563280	1.00[CEU][hapmap]
rs12563894	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12564258	1.00[CHB][hapmap];0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs12564278	1.00[CEU][hapmap]
rs12565921	0.81[ASN][1000 genomes]
rs12566131	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs12566162	1.00[CHB][hapmap];0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs12566320	1.00[CEU][hapmap]
rs12567335	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs12567531	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs12567904	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12567967	1.00[EUR][1000 genomes]
rs12568148	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12568708	0.81[ASN][1000 genomes]
rs12568862	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12568928	1.00[EUR][1000 genomes]
rs12568979	1.00[EUR][1000 genomes]
rs12569224	1.00[EUR][1000 genomes]
rs17115105	1.00[CEU][hapmap]
rs17115108	1.00[CEU][hapmap]
rs17115146	1.00[CEU][hapmap]
rs17115155	1.00[CEU][hapmap]
rs17115222	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs17115397	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs17115441	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs17115445	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs17115580	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17115587	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17420013	1.00[CEU][hapmap]
rs17420216	1.00[CEU][hapmap]
rs17421219	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17421839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17422039	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17455073	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17455469	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17455616	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17455728	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17455840	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs197599	0.85[CHB][hapmap]
rs197606	0.82[JPT][hapmap]
rs197623	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs59762173	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61765330	0.86[EUR][1000 genomes]
rs61765331	0.86[EUR][1000 genomes]
rs61765332	0.86[EUR][1000 genomes]
rs61765561	1.00[EUR][1000 genomes]
rs61765563	1.00[EUR][1000 genomes]
rs61765578	1.00[EUR][1000 genomes]
rs61765580	1.00[EUR][1000 genomes]
rs61765581	1.00[EUR][1000 genomes]
rs61765586	1.00[EUR][1000 genomes]
rs61765589	1.00[EUR][1000 genomes]
rs61765590	1.00[EUR][1000 genomes]
rs61765591	1.00[EUR][1000 genomes]
rs61765592	1.00[EUR][1000 genomes]
rs61765593	1.00[EUR][1000 genomes]
rs61765594	1.00[EUR][1000 genomes]
rs61765595	1.00[EUR][1000 genomes]
rs61765623	1.00[EUR][1000 genomes]
rs61765656	0.81[ASN][1000 genomes]
rs61765658	0.81[ASN][1000 genomes]
rs61765659	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61767360	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61767361	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61767362	0.85[ASN][1000 genomes]
rs61767363	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61767364	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61767365	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61767367	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61767368	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61767384	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61767385	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61767386	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61767387	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61767388	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61767389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61767390	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61767392	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61767393	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61767394	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61767395	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61767396	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61767398	0.88[ASN][1000 genomes]
rs61767399	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs61767400	0.93[ASN][1000 genomes]
rs61767401	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61767411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61767412	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61767514	1.00[EUR][1000 genomes]
rs61767515	1.00[EUR][1000 genomes]
rs61767516	1.00[EUR][1000 genomes]
rs61767517	1.00[EUR][1000 genomes]
rs6695086	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57773000-57778400	Weak transcription	Brain Angular Gyrus	brain
2	chr1:57773200-57790200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:57774400-57777400	Enhancers	HepG2	liver
4	chr1:57775600-57777800	Enhancers	Duodenum Mucosa	Duodenum
5	chr1:57775600-57779800	Enhancers	Fetal Intestine Large	intestine
6	chr1:57775600-57779800	Enhancers	Fetal Intestine Small	intestine
7	chr1:57776400-57777600	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr1:57776600-57790200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:57776800-57777000	Flanking Active TSS	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links